Ignite Creation Date:
2024-05-05 @ 11:26 AM
Last Modification Date:
2024-10-26 @ 9:07 AM
Study NCT ID:
NCT00031122
Status:
UNKNOWN
Last Update Posted:
2010-10-05
First Post:
2002-02-26
Brief Title:
Study of Genetic Risk Factors for Spina Bifida and Anencephaly
Sponsor:
Eunice Kennedy Shriver National Institute of Child Health and Human Development NICHD
Organization:
Office of Rare Diseases ORD
Study Overview
Official Title:
The Spina Bifida Research Resource
Status:
UNKNOWN
Status Verified Date:
2009-05
Last Known Status:
ACTIVE_NOT_RECRUITING
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
SBRR
Brief Summary:
The purpose of this study is to describe the genetic contribution to the neural tube defects spina bifida SB and anencephaly A which includes identifying patients defining the roles of certain genes and studying gene-environment interactions
Detailed Description:
The terms spina bifida and anencephaly include a range of developmental malformations that result from abnormal or incomplete closure of the neural tube Despite advances in treatment and prenatal detection these conditions remain as one of the most common and serious groups of birth defects Spina bifida is associated with both increased mortality and morbidity and anencephaly is always fatal The occurrence of these conditions has a profound influence on affected individuals and their families and important public health implications The etiology of NTDs has been of considerable interest for several decades They are known to be etiologically heterogeneous and to occur in association with chromosome abnormalities teratogenic exposures and occasionally as part of single gene disorders However a specific causative agent cannot be identified in the vast majority of affected individuals The etiology of NTDs in these non-syndromic patients is believed to be complex and to involve both genetic and environmental risk factors Using a comprehensive research program this study will evaluate the potential genetic determinants of SB and anencephaly in a large well-characterized sample
The family constellation used in this study consists of the proband individual with an NTD - SB or A and the probands biologic parents and maternal grandparents Blood or saliva samples are obtained from individuals and their families Genomic DNA from all study participants is prepared from the samples and genetic loci are evaluated The proband or hisher parents complete a study questionnaire to obtain family history and epidemiologic information
The family constellation used in this study consists of the proband individual with an NTD - SB or A and the probands biologic parents and maternal grandparents Blood or saliva samples are obtained from individuals and their families Genomic DNA from all study participants is prepared from the samples and genetic loci are evaluated The proband or hisher parents complete a study questionnaire to obtain family history and epidemiologic information
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 1R01HD039081-01 | NIH | None | httpsreporternihgovquickSearch1R01HD039081-01 |